TG S734A - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

TG S734A

(TG Ser734Ala)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • G @ chr8:133900252: 59.2% (6365/10758) in EVS
  • G @ chr8:133969433: 61.7% (79/128) in GET-Evidence
  • Frequency shown in summary reports: 59.2% (6365/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het G @ chr8:133900252

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het G @ chr8:133900252

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chr8:133900252

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom G @ chr8:133900252

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het G @ chr8:133900252

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom G @ chr8:133900252

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
hom G @ chr8:133900252

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het G @ chr8:133900252

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het G @ chr8:133900252

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom G @ chr8:133900252

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
hom G @ chr8:133900252

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
hom G @ chr8:133900252

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom G @ chr8:133900252

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
hom G @ chr8:133900252

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het G @ chr8:133900252

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het G @ chr8:133900252

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het G @ chr8:133900252

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het G @ chr8:133900252

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het G @ chr8:133900252

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom G @ chr8:133900252

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het G @ chr8:133900252

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr8:133900252

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het G @ chr8:133900252

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het G @ chr8:133900252

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het G @ chr8:133900252

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het G @ chr8:133900252

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom G @ chr8:133900252

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom G @ chr8:133900252

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het G @ chr8:133900252

 

GS06994 - var-GS06994-1100-36-ASM
het G @ chr8:133969434

 

GS12004 - var-GS12004-1100-36-ASM
hom G @ chr8:133969434

 

GS18501 - var-GS18501-1100-36-ASM
het G @ chr8:133969434

 

GS18502 - var-GS18502-1100-36-ASM
het G @ chr8:133969434

 

GS18504 - var-GS18504-1100-36-ASM
hom G @ chr8:133969434

 

GS18505 - var-GS18505-1100-36-ASM
hom G @ chr8:133969434

 

GS18508 - var-GS18508-1100-36-ASM
hom G @ chr8:133969434

 

GS18517 - var-GS18517-1100-36-ASM
hom G @ chr8:133969434

 

GS18526 - var-GS18526-1100-36-ASM
hom G @ chr8:133969434

 

GS18537 - var-GS18537-1100-36-ASM
hom G @ chr8:133969434

 

GS18555 - var-GS18555-1100-36-ASM
hom G @ chr8:133969434

 

GS18558 - var-GS18558-1100-36-ASM
hom G @ chr8:133969434

 

GS18940 - var-GS18940-1100-36-ASM
hom G @ chr8:133969434

 

GS18942 - var-GS18942-1100-36-ASM
hom G @ chr8:133969434

 

GS18947 - var-GS18947-1100-36-ASM
hom G @ chr8:133969434

 

GS18956 - var-GS18956-1100-36-ASM
hom G @ chr8:133969434

 

GS19020 - var-GS19020-1100-36-ASM
het G @ chr8:133969434

 

GS19025 - var-GS19025-1100-36-ASM
hom G @ chr8:133969434

 

GS19026 - var-GS19026-1100-36-ASM
het G @ chr8:133969434

 

GS19129 - var-GS19129-1100-36-ASM
hom G @ chr8:133969434

 

GS19238 - var-GS19238-1100-36-ASM
hom G @ chr8:133969434

 

GS19239 - var-GS19239-1100-36-ASM
het G @ chr8:133969434

 

GS19240 - var-GS19240-1100-36-ASM
het G @ chr8:133969434

 

GS19649 - var-GS19649-1100-36-ASM
het G @ chr8:133969434

 

GS19669 - var-GS19669-1100-36-ASM
het G @ chr8:133969434

 

GS19703 - var-GS19703-1100-36-ASM
hom G @ chr8:133969434

 

GS19704 - var-GS19704-1100-36-ASM
hom G @ chr8:133969434

 

GS19735 - var-GS19735-1100-36-ASM
het G @ chr8:133969434

 

GS19834 - var-GS19834-1100-36-ASM
het G @ chr8:133969434

 

GS20502 - var-GS20502-1100-36-ASM
het G @ chr8:133969434

 

GS20509 - var-GS20509-1100-36-ASM
hom G @ chr8:133969434

 

GS21767 - var-GS21767-1100-36-ASM
hom G @ chr8:133969434

 

Other external references
 

    dbSNP
  • rs180223
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (21 hits -- see all)
  • OMIM: 188450
    Hence, homology of synteny for TG and MYC has been maintained between rat and man. ... TG expression was decreased in thyroid carcinomas but was normal in ...
    www.genome.jp/dbget-bin/www_bget?omim+188450
  • Type I- 95%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... CK2 (0.813) neuroblastoma 8047138 CAV3 P56539 S61R 61 VAR_026696 PKC ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_95.txt
  • Toreyu・卸販売はこちら - スーパーデリバリー
    Toreyuの卸商品を多数掲載。小売店専用の卸販売サイト。只今、無料お試しキャンペーン中。アパレル・雑貨を取扱うメーカーや商社等が、新製品・定番品を卸販売。登録小売店は、旬のアパレル・雑貨を直接卸価格で購入する事が可能。ラクーンが運営。
    www.superdelivery.com/j/do/dpsl/124886/2705/?tg=21
  • 服飾雑貨-サングラスを卸販売!問屋に替わる商品仕入れサイト スーパーデリバリー
    サングラスに関する卸商品を多数掲載。小売店専用の卸販売サイト。只今、無料お試しキャンペーン中。アパレル・雑貨を取扱うメーカーや商社(問屋)等が、新製品・定番品を卸販売。登録小売店は、旬のアパレル・雑貨を直接卸価格で仕入れる事が可能。ラクーンが運営。
    www.superdelivery.com/j/do/psl/2705/?tg=21&vi=1
  • MOVEMENT レディース ファッション小物 通販・価格 (おすすめ順) - coneco.net [ファッション]
    MOVEMENTのレディースファッション小物を比較、検索。通販価格、販売情報が満載のconeco.net[ファッション]ならきっとお探しのファッション小物が見つかります。
    shopping.coneco.net/ca_287-tg_2-rw_50-st_23043
  • S7
    感想(3件)23,800円税込、送料込デジカメオンライン専用フォト用紙セット(SVM-F40L)付き!ソニー(SONY)デジタルフォトプリンターDPP-FP70 ... 「煮物」など調理法が異なる料理を同時に調理可能としたスチームオーブンレンTG)詳細情報はこちら2009年4月7日ソニー、1台3役のオールイン ...
    www.prettypresent.info/1007.html

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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